Linked Data
ClinVar Variation Id:
2978589
ClinVar RCV Id:
RCV003839235
dbSNP Id:
rs1276538257
gnomAD v2:
2-71337130-A-G
gnomAD v3:
2-71110000-A-G
gnomAD v4:
2-71110000-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71110000A>G , CM000664.2:g.71110000A>G | GRCh38 |
| NC_000002.11:g.71337130A>G , CM000664.1:g.71337130A>G | GRCh37 |
| NC_000002.10:g.71190638A>G | NCBI36 |
| NG_008977.1:g.25265T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.501T>C MANE Select | ENSP00000244217.5:p.Gly167= | |
| ENST00000244217.5:c.501T>C | ENSP00000244217.5:p.Gly167= | |
| ENST00000413592.5:c.207T>C | ENSP00000391140.1:p.Gly69= | |
| ENST00000462609.2:n.447T>C | ||
| NM_032601.3:c.501T>C | NP_115990.3:p.Gly167= | |
| XM_005264613.2:c.339T>C | XP_005264670.1:p.Gly113= | |
| XR_939729.2:n.666T>C | ||
| NM_032601.4:c.501T>C MANE Select | NP_115990.3:p.Gly167= |